Literature DB >> 8639088

Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.

R D Carrero-Valenzuela1, M L Klein, R G Weleber, W H Murphey, M Litt.   

Abstract

Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.

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Year:  1996        PMID: 8639088     DOI: 10.1001/archopht.1996.01100130729016

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  9 in total

Review 1.  Genetic factors of age-related macular degeneration.

Authors:  Jingsheng Tuo; Christine M Bojanowski; Chi-Chao Chan
Journal:  Prog Retin Eye Res       Date:  2004-03       Impact factor: 21.198

2.  Matrix bound SFD mutant TIMP-3 is more stable than wild type TIMP-3.

Authors:  Mohammed A Majid; Valerie A Smith; Andrew C Newby; Andrew D Dick
Journal:  Br J Ophthalmol       Date:  2007-03-23       Impact factor: 4.638

Review 3.  Molecular genetics of macular dystrophies.

Authors:  K Zhang; H Yeon; M Han; L A Donoso
Journal:  Br J Ophthalmol       Date:  1996-11       Impact factor: 4.638

4.  Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

Authors:  J J Assink; E de Backer; J B ten Brink; T Kohno; P T de Jong; A A Bergen; F Meire
Journal:  Br J Ophthalmol       Date:  2000-07       Impact factor: 4.638

Review 5.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Authors:  A Iannaccone
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

6.  Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

Authors:  U Felbor; E A Suvanto; H R Forsius; A W Eriksson; B H Weber
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

7.  Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye.

Authors:  R N Fariss; S S Apte; B R Olsen; K Iwata; A H Milam
Journal:  Am J Pathol       Date:  1997-01       Impact factor: 4.307

8.  Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium.

Authors:  Abbi L Engel; YeKai Wang; Thomas H Khuu; Emily Worrall; Megan A Manson; Rayne R Lim; Kaitlen Knight; Aya Yanagida; Jian Hua Qi; Aravind Ramakrishnan; Richard G Weleber; Michael L Klein; David J Wilson; Bela Anand-Apte; James B Hurley; Jianhai Du; Jennifer R Chao
Journal:  Exp Eye Res       Date:  2021-12-17       Impact factor: 3.770

9.  Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa.

Authors:  R N Fariss; S S Apte; P J Luthert; A C Bird; A H Milam
Journal:  Br J Ophthalmol       Date:  1998-11       Impact factor: 4.638

  9 in total

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